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M. Vekemans · SciRah

Researcher profile · Semantic Scholar

M. Vekemans

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M. Vekemans — researcher profile on SciRah

h-index: 64
Works: 282
Citations: 16K

Most-cited papers

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
M. Delous, L. Baala, R. Salomon, C. Laclef +33 more
2007Nature Genetics501 citations
Semantic Scholar
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
L. Baala, S. Audollent, J. Martinovic, C. Ozilou +31 more
2007American Journal of Human Genetics288 citations Open access
Semantic Scholar
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
E. Valente, Clare V. Logan, S. Mougou-Zerelli, J. H. Lee +47 more
2010Nature Genetics286 citations Open access
Semantic Scholar
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
L. Baala, S. Romano, Rana Khaddour, S. Saunier +17 more
2007American Journal of Human Genetics253 citations Open access
Semantic Scholar
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
A. Putoux, S. Thomas, K. Coene, E. Davis +35 more
2011Nature Genetics240 citations Open access
Semantic Scholar
Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans
L. de Pontual, E. Yao, P. Callier, L. Faivre +14 more
2011Nature Genetics211 citations Open access
Semantic Scholar
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect, craniorachischisis
A. Robinson, S. Escuin, K. Doudney, M. Vekemans +4 more
2011Human Mutation202 citations Open access
Semantic Scholar
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.
C. Golzio, Jelena Martinovic-Bouriel, S. Thomas, Soumaya Mougou-Zrelli +9 more
2007American Journal of Human Genetics199 citations Open access
Semantic Scholar
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
V. Malan, D. Rajan, S. Thomas, A. Shaw +14 more
2010American Journal of Human Genetics167 citations Open access
Semantic Scholar
Mutational, functional, and expression studies of the TCF4 gene in Pitt‐Hopkins syndrome
L. de Pontual, Yves D. Mathieu, C. Golzio, M. Rio +20 more
2009Human Mutation153 citations Open access
Semantic Scholar
TCTN3 mutations cause Mohr-Majewski syndrome.
S. Thomas, M. Legendre, S. Saunier, B. Bessières +22 more
2012American Journal of Human Genetics145 citations Open access
Semantic Scholar
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
C. Thauvin-Robinet, Jaclyn S. Lee, E. Lopez, V. Herranz-Pérez +25 more
2014Nature Genetics133 citations Open access
Semantic Scholar
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
S. Thomas, K. J. Wright, S. L. Le Corre, A. Micalizzi +24 more
2014Human Mutation124 citations Open access
Semantic Scholar
Human neural crest cells display molecular and phenotypic hallmarks of stem cells
S. Thomas, Marie K Thomas, P. Wincker, C. Babarit +6 more
2008Human Molecular Genetics114 citations Open access
Semantic Scholar
New insights into genotype–phenotype correlation for GLI3 mutations
F. Demurger, A. Ichkou, S. Mougou-Zerelli, M. Le Merrer +48 more
2014European Journal of Human Genetics109 citations Open access
Semantic Scholar
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
C. Gordon, F. Petit, M. Oufadem, C. Decaestecker +28 more
2012Journal of Medical Genetics100 citations
Semantic Scholar
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
S. Mougou-Zerelli, S. Thomas, Emmanuelle Szenker, S. Audollent +28 more
2009Human Mutation95 citations Open access
Semantic Scholar
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
C. Alby, Kevin Piquand, C. Huber, A. Mégarbané +26 more
2015American Journal of Human Genetics85 citations Open access
Semantic Scholar
Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus.
G. Szinnai, L. Lacroix, A. Carré, F. Guimiot +9 more
2007Journal of Clinical Endocrinology and Metabolism81 citations Open access
Semantic Scholar
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome
R. Redon, G. Baujat, D. Sanlaville, M. Le Merrer +5 more
2006European Journal of Human Genetics81 citations
Semantic Scholar
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
D. Cavalcanti, C. Huber, Kim-Hanh le Quan Sang, G. Baujat +9 more
2009Journal of Medical Genetics72 citations
Semantic Scholar
Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study
Matthieu Egloff, B. Hervé, T. Quibel, S. Jaillard +21 more
2018Ultrasound in Obstetrics and Gynecology70 citations Open access
Semantic Scholar
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
C. S. van der Werf, Tara D. Wabbersen, Nai-hua Hsiao, J. Paredes +17 more
2012Gastroenterology59 citations
Semantic Scholar
Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients
D. Lehalle, C. Gordon, M. Oufadem, Géraldine Goudefroye +32 more
2014Human Mutation56 citations Open access
Semantic Scholar
Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial
V. Malan, L. Bussières, N. Winer, J. Jais +10 more
2018Journal of the American Medical Association (JAMA)55 citations Open access
Semantic Scholar
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity
S. Thomas, Vincent Cantagrel, Laura E. Mariani, V. Serre +12 more
2014European Journal of Human Genetics54 citations Open access
Semantic Scholar
ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation
C. Golzio, Emmanuelle Havis, P. Daubas, G. Nuel +6 more
2012PLoS ONE53 citations Open access
Semantic Scholar
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations
M. Legendre, M. Gonzalès, Géraldine Goudefroye, F. Bilan +30 more
2012Journal of Medical Genetics50 citations
Semantic Scholar
LRRFIP1, a new FGFR1 partner gene associated with 8p11 myeloproliferative syndrome
G. Soler, S. Nusbaum, B. Varet, E. Macintyre +3 more
2009Leukemia50 citations Open access
Semantic Scholar
Pallister-Killian Syndrome
M. Vekemans, M. Blyth
2020Definitions47 citations Open access
Semantic Scholar
A tumor profile in Edwards syndrome (trisomy 18)
D. Satgé, M. Nishi, N. Sirvent, M. Vekemans
2016American Journal of Medical Genetics. Part C, Seminars in Medical Genetics41 citations
Semantic Scholar
Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation
G. Soler, I. Radford-Weiss, R. Ben-Abdelali, N. Mahlaoui +5 more
2008Leukemia40 citations
Semantic Scholar
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment
C. Thauvin-Robinet, S. Thomas, M. Sinico, B. Aral +21 more
2013Clinical Genetics39 citations
Semantic Scholar
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
A. Putoux, S. Nampoothiri, N. Laurent, V. Cormier-Daire +16 more
2012Journal of Medical Genetics39 citations Open access
Semantic Scholar
Germline gain‐of‐function mutations of ALK disrupt central nervous system development
L. de Pontual, Dania Kettaneh, C. Gordon, M. Oufadem +15 more
2011Human Mutation39 citations Open access
Semantic Scholar
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition
M. Rio, V. Malan, S. Boissel, A. Toutain +8 more
2010European Journal of Human Genetics38 citations Open access
Semantic Scholar
PAX2 mutations in fetal renal hypodysplasia
Jelena Martinovic-Bouriel, A. Benachi, M. Bonnière, N. Brahimi +8 more
2010American Journal of Medical Genetics. Part A37 citations
Semantic Scholar
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.
C. Alby, V. Malan, L. Boutaud, M. Marangoni +12 more
2016Birth defects research. Clinical and molecular teratology36 citations Open access
Semantic Scholar
High‐throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy
S. Thomas, F. Encha-Razavi, L. Devisme, H. Etchevers +28 more
2010Human Mutation33 citations
Semantic Scholar
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
N. Léticée, Bettina Bessières-Grattagliano, T. Dupré, S. Vuillaumier-Barrot +8 more
2010Molecular Genetics and Metabolism31 citations
Semantic Scholar
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy
C. Leroy, M. Jacquemont, B. Doray, D. Lamblin +10 more
2016Clinical Genetics30 citations
Semantic Scholar
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia
Marie Cognet, A. Nougayrede, V. Malan, P. Callier +16 more
2011European Journal of Human Genetics28 citations Open access
Semantic Scholar
BBS10 mutations are common in ‘Meckel’-type cystic kidneys
A. Putoux, S. Mougou-Zerelli, S. Thomas, Nadia Elkhartoufi +14 more
2010Journal of Medical Genetics27 citations
Semantic Scholar
Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy.
V. Frémeaux-Bacchi, D. Sanlaville, S. Menouer, J. Blouin +4 more
2007American Journal of Kidney Diseases27 citations
Semantic Scholar
Women’s Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome
V. Séror, Olivier l'Haridon, L. Bussières, V. Malan +4 more
2019JAMA Network Open26 citations Open access
Semantic Scholar
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth
V. Malan, S. Chevallier, G. Soler, C. Coubes +10 more
2010European Journal of Human Genetics26 citations Open access
Semantic Scholar
A very rare cancer in Down syndrome: medulloblastoma. Epidemiological data from 13 countries
D. Satgé, C. Stiller, S. Rutkowski, A. V. von Bueren +18 more
2013Journal of Neuro-Oncology24 citations Open access
Semantic Scholar
A tumor profile in Patau syndrome (trisomy 13)
D. Satgé, M. Nishi, N. Sirvent, M. Vekemans +2 more
2017American Journal of Medical Genetics. Part A23 citations
Semantic Scholar
Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
M. Nizon, J. Andrieux, C. Rooryck, M. de Blois +31 more
2015American Journal of Medical Genetics. Part A23 citations
Semantic Scholar
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test
V. Malan, J. Lapierre, M. Egloff, D. Goidin +12 more
2016Cytogenetic and Genome Research22 citations
Semantic Scholar

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